List of variants in gene combination GATAD1, PEX1 reported as pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2926+1G>A	rs267608179	0.00006
NM_000466.3(PEX1):c.2926+2T>C	rs267608180	0.00001
NM_000466.3(PEX1):c.3208-1G>A	rs1057517518	0.00001
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	rs61750428
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	rs954814470
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)	rs61750430
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)	rs1562846113
NM_000466.3(PEX1):c.3207+1G>C	rs267608181
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)	rs1459743428
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	rs769836601

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